PDE11A ist ein Gen, das durch das Symbol PDE11A kodiert wird. Im Allgemeinen auch bezeichnet als: Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A; cAMP and cGMP phosphodiesterase 11A. PDE11A hat eine Masse von 104.75kDa, eine Aminosäurelänge von 933, und ist an Primary pigmented nodular adrenocortical disease 2 beteiligt.
Wir bieten 9 antikörper gegen PDE11A, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively.
Entrez Zusammenfassung
The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene.
Gewebespezifität
Isoform 1 is present in prostate, pituitary, heart and liver. It is however not present in testis nor in penis, suggesting that weak inhibition by Tadalafil (Cialis) is not relevant (at protein level). Isoform 2 may be expressed in testis. Isoform 4 is expressed in adrenal cortex.
Rolle bei Krankheiten
Primary pigmented nodular adrenocortical disease 2: A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
Sequenzähnlichkeiten
Belongs to the cyclic nucleotide phosphodiesterase family.
Zellort
Cytoplasm > Cytosol.
